Paralogue Annotation for SCN5A residue 72

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 72
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 72

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AP72LMyotonic dystrophy, type 2Medium2 25660391, 25660391

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5A-GLPEE--EAPRPQLDLQASKKLPDLYGNP>P<QELIGEPLEDLDPFYSTQK-TFI-VLNKGK100
SCN1A-KDDDE--NGPKPNSDLEAGKNLPFIYGDI>P<PEMVSEPLEDLDPYYINKK-TFI-VLNKGK97
SCN2AKDEDDE--NGPKPNSDLEAGKSLPFIYGDI>P<PEMVSVPLEDLDPYYINKK-TFI-VLNKGK98
SCN3A-DNDDE--NKPKPNSDLEAGKNLPFIYGDI>P<PEMVSEPLEDLDPYYINKK-TFI-VMNKGK97
SCN4A-MEIEE--PERKPRSDLEAGKNLPMIYGDP>P<PEVIGIPLEDLDPYYSNKK-TFI-VLNKGK100
SCN7A-EDHEE--EDLKPTPDLEVGKKLPFIYGNL>S<QGMVSEPLEDVDPYYYKKKNTFI-VLNKNR87
SCN8A-EDDED--SKPKPNSDLEAGKSLPFIYGDI>P<QGLVAVPLEDFDPYYLTQK-TFV-VLNRGK101
SCN9A-KDDDE--EAPKPSSDLEAGKQLPFIYGDI>P<PGMVSEPLEDLDPYYADKK-TFI-VLNKGK95
SCN10A-QKDQE--EKPRPQLDLKACNQLPKFYGEL>P<AELIGEPLEDLDPFYSTHR-TFM-VLNKGR99
SCN11A-QTGEV--PQPRPQLDLKASRKLPKLYGDI>P<RELIGKPLEDLDPFYRNHK-TFM-VLNRKR98
CACNA1AGGRGAG--GSRQGGQ--------PGA---->-<------QRMYKQSMAQRARTMAL-YNPIPV67
CACNA1BGAGGAG--GPGPGGLQ-------PGQ---->-<------RVLYKQSIAQRARTMAL-YNPIPV64
CACNA1C---PEH--IPTPGAALSWQAAIDAARQAKL>M<GSAGNATISTVSST-QRKRQQYG-KPKKQG93
CACNA1D---PTSQPNSSKQTVLSWQAAIDAARQAKA>A<QTMSTSAPPPVGSLSQRKRQQYA-KSKKQG95
CACNA1ESRNRQG--TPVPA----------SGQ---->-<------AAAYKQTKAQRARTMAL-YNPIPV58
CACNA1F---PEWGLCPGP----P-------AV---->-<---EGESSGASGLGTPKRRNQHS-KHKTVA61
CACNA1G---LSG--AGGRP-----------G----->-<-----PGSA-------EKDPG-SADSEAEG50
CACNA1H---ELG--VSPSE-----------S----->-<-----P-AA-------ERGAELG-ADEEQR69
CACNA1I---QPG--P--RS--P-------PS----->-<-----SPPG-------LEEPL-D-G-ADPH48
CACNA1S------------------------------>-<------------SSPQDEGLRKK-QPKKPV20
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 72 for SCN5A.